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Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases

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We recently established an external quality assessment (EQA) scheme for next-generation sequencing (NGS) diagnostics in rare neurological disorders (RND) in collaboration with the EMQN. The first assessment rounds revealed limitations and variability in the quality and completeness of genetic testing reports. To improve and harmonize reporting in NGS-based diagnostics for RND, we identified 28 topics…